Publications:

Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.

Molecular Genetics & Genomic Medicine

Li, Jinjie J; Yang, Liu L; Diao, Yanjun Y; Zhou, Lei L; Xin, Yijuan Y; Jiang, Liqing L; Li, Rui R; Wang, Juan J; Duan, Weixun W; Liu, Jiayun J

Publication Date: 2021-10

Variant appearance in text: FBN1: 2607delC

PubMed Link: 34498425

Variant Present in the following documents:

• Main text
• MGG3-9-e1800.pdf

View BVdb publication page

Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.

Molecular Genetics & Genomic Medicine

Li, Jinjie J; Yang, Liu L; Diao, Yanjun Y; Zhou, Lei L; Xin, Yijuan Y; Jiang, Liqing L; Li, Rui R; Wang, Juan J; Duan, Weixun W; Liu, Jiayun J

Publication Date: 2021-10

Variant appearance in text: FBN1: 2607delC

PubMed Link: 34498425

Variant Present in the following documents:

• Main text
• MGG3-9-e1800.pdf

View BVdb publication page

SCN8A mutation in a child presenting with seizures and developmental delays.

Cold Spring Harbor Molecular Case Studies

Malcolmson, Janet J; Kleyner, Robert R; Tegay, David D; Adams, Whit W; Ward, Kenneth K; Coppinger, Justine J; Nelson, Lesa L; Meisler, Miriam H MH; Wang, Kai K; Robison, Reid R; Lyon, Gholson J GJ

Publication Date: 2016-11

Variant appearance in text: FBN1: 2607delC

PubMed Link: 27900360

Variant Present in the following documents:

• supp_mcs.a001073_Supplementary_Table_3.xlsx, sheet 2
• supp_mcs.a001073_Supplementary_Table_2.xlsx, sheet 2
• supp_mcs.a001073_Supplementary_Table_1.xlsx, sheet 2

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